Linked Data
ClinVar Variation Id:
844920
dbSNP Id:
rs370054250
ExAC:
2:26426989 T / A
gnomAD v2:
2-26426989-T-A
gnomAD v3:
2-26204120-T-A
gnomAD v4:
2-26204120-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204120T>A , CM000664.2:g.26204120T>A | GRCh38 |
| NC_000002.11:g.26426989T>A , CM000664.1:g.26426989T>A | GRCh37 |
| NC_000002.10:g.26280493T>A | NCBI36 |
| NG_007121.1:g.45501A>T | |
| NG_007121.2:g.45502A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1162A>T MANE Select | ENSP00000370023.3:p.Ile388Leu | |
| ENST00000492433.2:c.1162A>T | ENSP00000438039.2:p.Ile388Leu | |
| ENST00000643057.1:c.*1053A>T | ENSP00000493761.1:n.*1053A>T | |
| ENST00000643063.1:c.*208A>T | ENSP00000495353.1:n.*208A>T | |
| ENST00000643233.1:c.*1053A>T | ENSP00000493880.1:n.*1053A>T | |
| ENST00000644428.1:c.1162A>T | ENSP00000495560.1:p.Ile388Leu | |
| ENST00000645274.1:c.1057A>T | ENSP00000493996.1:p.Ile353Leu | |
| ENST00000646031.1:c.521A>T | ||
| ENST00000646483.1:c.1028A>T | ENSP00000496185.1:n.1028A>T | |
| ENST00000380649.7:c.1162A>T | ENSP00000370023.3:p.Ile388Leu | |
| NM_000182.4:c.1162A>T | NP_000173.2:p.Ile388Leu | |
| NM_000182.5:c.1162A>T MANE Select | NP_000173.2:p.Ile388Leu |